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Functional heterogeneity of polymorphisms in the human organic anion transporter, OAT3 (SLC22A8) by A ERDMAN; C BROWN; R CASTRO; T TAYLOR; E CARLSON; K GIACOMINI is a Medicine article available to read on EtoBox.
What is Functional heterogeneity of polymorphisms in the human organic anion transporter, OAT3 (SLC22A8) about?
BACKGROUND/AIMS: SULT1A1 catalyzes the sulfate conjugation of estrogens and many drugs. A common ORF SNP (Arg213His, SULT1A1\*2) is associated with low SULT1A1 activity, and 2 additional SNPs, C(-624)G and G(-396)A, are associated with decreased transcription. ## METHODS: We examined the association of these 3 SNPs with breast cancer (BC) in 173 relatives of BC cases and 330 control subjects, and with percent mammographic density (PD) in 357 control postmenopausal women. RESULTS: Women with 2 copies of any one of the 3 SULT1A1 variant SNPs were at approximately 50% higher risk of breast cancer [for (Ϫ624) ORϭ1.7, CIϭ0.9 -3.1; for (Ϫ396) ORϭ1.6, CIϭ0.9 -2.8; for Arg213His ORϭ1.5, CIϭ0.8 -2.7]. Haplotype analysis showed increased risk of BC for those with all 3 SNPs (ORϭ 1.4, CIϭ0.9 -2.0). Significant increases in PD were also observed for carriers of the (Ϫ396) SNP [mean PDϭ18%, 20%, 23% for 0, 1, 2 copies, respectively, pϽ0.01]. CONCLUSIONS: These data suggest that intragene haplotype for SULT1A1 (Ϫ624)G, (Ϫ396)A and Arg213His may be associated with increased breast cancer risk, and the (Ϫ396) SNP with increased PD.
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- Author
- A ERDMAN; C BROWN; R CASTRO; T TAYLOR; E CARLSON; K GIACOMINI
- Publisher
- Nature Publishing Group; Wiley (Blackwell Publishing); Wiley-Blackwell; Wiley; Springer Science and Business Media LLC; Research Square (ISSN 0009-9236)
- Published
- 2005
- Language
- EN
- Field
- Medicine (Health Sciences)
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